CNR - Consiglio Nazionale delle Ricerche

On the multiple roles of the voltage gated sodium channel beta1 subunit in genetic diseases.

Anno

2015

Autori

Baroni, Debora; Moran, Oscar

Abstract

Voltage-gated sodium channels are intrinsic plasma membrane proteins that initiate the action potential in electrically excitable cells. They are composed of a pore-forming alpha-subunit and associated beta-subunits. The beta1-subunit was the first accessory subunit to be cloned. It can be important for controlling cell excitability and modulating multiple aspects of sodium channel physiology. Mutations of beta1 are implicated in a wide variety of inherited pathologies, including epilepsy and cardiac conduction diseases. This review summarizes beta1-subunit related channelopathies pointing out the current knowledge concerning their genetic background and their underlying molecular mechanisms.